A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3446786



Internal ID15293736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:24521930..24521949hg38UCSC Ensembl
Innerchr18:24521926..24521953hg38UCSC Ensembl
Outerchr18:24521907..24521972hg38UCSC Ensembl
chr18:22101894..22101913hg19UCSC Ensembl
Innerchr18:22101890..22101917hg19UCSC Ensembl
Outerchr18:22101871..22101936hg19UCSC Ensembl
chr18:20355892..20355911hg18UCSC Ensembl
Innerchr18:20355915..20355888hg18UCSC Ensembl
Outerchr18:20355869..20355934hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678251
SamplesNA19240
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3446786
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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